FAM162A: Hypoxia-Induced Gene and Its Role in Apoptosis
Comprehensive genomic and functional overview of FAM162A (E2IG5, HGTI), a key player in hypoxia-induced cell death and cancer biology.
Gene Information Card
| Symbol | FAM162A |
|---|---|
| Full Name | Family With Sequence Similarity 162 Member A |
| Gene Type | Protein coding |
| Chromosomal Location | 3q21.3 |
| NCBI Gene ID | 26355 ncbi.nlm.nih.gov/gene/26355 |
| Ensembl ID | ENSG00000114013 |
| UniProt ID | Q96A26 |
| OMIM ID | 617022 |
| HGNC ID | 26220 |
| Aliases | E2IG5, HGTI |
Description
FAM162A (Family With Sequence Similarity 162 Member A) is a protein-coding gene located on chromosome 3q21.3. It encodes a protein that is induced under hypoxic conditions and localizes to mitochondria, where it promotes apoptosis by interacting with the electron transport chain and triggering cytochrome c release. FAM162A is also known as E2IG5 (estrogen-induced gene 5) and HGTI (hypoxia- and glucocorticoid-induced transcript 1). Its expression is upregulated in various cancers and is associated with poor prognosis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Upregulation of FAM162A under hypoxia promotes apoptosis resistance and tumor progression. | NCBI Gene, COSMIC |
| Hypoxia-related pathologies | FAM162A mediates hypoxia-induced cell death via mitochondrial pathway. | UniProt, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 10.2 | Medium |
| Heart | 8.7 | Low |
| Brain | 6.3 | Low |
| Lung | 15.1 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 18.4 | Cervical cancer cell line |
| HepG2 | 22.1 | Hepatocellular carcinoma |
| A549 | 14.7 | Lung adenocarcinoma |
| MCF7 | 9.8 | Breast cancer |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.347G>A (p.Arg116His) | Missense | 0.01% | Unknown functional impact |
| c.502C>T (p.Arg168Trp) | Missense | 0.005% | Reported in COSMIC |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • mitochondrion | • apoptotic process |
| • response to hypoxia | • protein homodimerization activity |
| • identical protein binding |
Pathways
• Hypoxia signaling via HIF-1
• Intrinsic apoptotic pathway
Protein Summary
The FAM162A protein is a 153-amino acid mitochondrial membrane protein. Under hypoxic conditions, its expression is induced by HIF-1α. It interacts with mitochondrial complex I and III, leading to increased reactive oxygen species (ROS) production and cytochrome c release, thereby activating caspase-dependent apoptosis. The protein also contains a transmembrane domain and is involved in cellular stress responses.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FAM162A Knockout HEK293 Cell Line | EDJ-KQ2180 | Human | 26355 | Details Get a Quote |
| FAM162A Knockout A-549 Cell Line | EDJ-KQ21088 | Human | 26355 | Details Get a Quote |
| FAM162A Knockout HCT 116 Cell Line | EDJ-KQ22399 | Human | 26355 | Details Get a Quote |
| FAM162A Knockout HeLa Cell Line | EDJ-KQ22400 | Human | 26355 | Details Get a Quote |
